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Disease found: | Familial Adenomatous Polyposis |
Current as of: | October 8, 2024 |
Disease Overview: | Rare inherited cancer predisposition by mutation of APC gene characterized by hundreds to thousands of precancerous colorectal polyps [more info] |
Signs and Symptoms: | Thousands of polyps within the colon [more info] |
Diagnosis: | Genetic testing for mutations in the APC gene and colonoscopy [more info] |
Treatment: | Partial or complete removal of the colon [more info] |
Clinical Management: | Specialist referrals and surgical management [more info] |
Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
Clinical Trials: | Various clinical trials still recruiting |